Canonical Allele Identifier: CA3298262
Gene: CARTPT HGNC NCBI

Linked Data

ClinVar Variation Id: 2331196
ClinVar RCV Id: RCV004174848
dbSNP Id: rs142927190
ExAC: 5:71015151 C / A
gnomAD v2: 5-71015151-C-A
gnomAD v3: 5-71719324-C-A
gnomAD v4: 5-71719324-C-A
MyVariant Identifiers: chr5:g.71015151C>A (hg19) chr5:g.71719324C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719324C>A , CM000667.2:g.71719324C>A GRCh38
NC_000005.9:g.71015151C>A , CM000667.1:g.71015151C>A GRCh37
NC_000005.8:g.71050907C>A NCBI36
NG_015988.1:g.5162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.31C>A MANE Select ENSP00000296777.4:p.Leu11Ile
ENST00000296777.4:c.31C>A ENSP00000296777.4:p.Leu11Ile
NM_004291.3:c.31C>A NP_004282.1:p.Leu11Ile
NM_004291.4:c.31C>A MANE Select NP_004282.1:p.Leu11Ile
Search 100 bp 5'
Search 100 bp 3'